Does Hermansky-Pudlak syndrome predispose to systemic lupus erythematosus?
case_report · Level V
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Abstract
We report a Japanese patient with Hermansky-Pudlak syndrome (HPS) who developed systemic lupus erythematosus (SLE). This is the second case report of HPS complicated with SLE. A 1-bp duplication of adenine at codon 441 was found in the HPS gene, namely HPS1, which caused a frameshift. This case serves as evidence indicating that a patient with HPS can be predisposed to SLE.
Medical subject headings
- Hermanski-Pudlak Syndrome
- Lupus Erythematosus, Systemic